Analysis of the Cat Eye Syndrome Critical Region in Humans and the Region of Conserved Synteny in Mice: A Search for Candidate Genes at or near the Human Chromosome 22 Pericentromere
Tim Footz,Polly Brinkman-Mills,Graham S. Banting,Stephanie Maier,M. Ali Riazi,Lindsay Bridgland,Song Hu,Bruce W. Birren,Shinsei Minoshima,Nobuyoshi Shimizu,Huaqin Pan,Thuan Nguyen,Fang Fang,Ying Fu,Linda Ray,Hui Wu,Steve Shaull,Stacey Phan,Ziyun Yao,Feng Chen,Axin Huan,Ping Hu,Qiaoyan Wang,Phoebe Loh,Sulan Qi,Bruce A. Roe,Heather E. McDermid +26 more
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TLDR
A 1.1-Mb region of human chromosome 22q containing the dosage-sensitive gene(s) responsible for cat eye syndrome as well as the 450-kb homologous region on mouse chromosome 6 is sequenced, and fourteen putative genes were identified within or adjacent to the human CES critical region (CESCR).Abstract:
We have sequenced a 1.1-Mb region of human chromosome 22q containing the dosage-sensitive gene(s) responsible for cat eye syndrome (CES) as well as the 450-kb homologous region on mouse chromosome 6. Fourteen putative genes were identified within or adjacent to the human CES critical region (CESCR), including three known genes (IL-17R, ATP6E, and BID) and nine novel genes, based on EST identity. Two putative genes (CECR3 and CECR9) were identified, in the absence of EST hits, by comparing segments of human and mouse genomic sequence around two solitary amplified exons, thus showing the utility of comparative genomic sequence analysis in identifying transcripts. Of the 14 genes, 10 were confirmed to be present in the mouse genomic sequence in the same order and orientation as in human. Absent from the mouse region of conserved synteny are CECR1, a promising CES candidate gene from the center of the contig, neighboring CECR4, and CECR7 and CECR8, which are located in the gene-poor proximal 400 kb of the contig. This latter proximal region, located approximately 1 Mb from the centromere, shows abundant duplicated gene fragments typical of pericentromeric DNA. The margin of this region also delineates the boundary of conserved synteny between the CESCR and mouse chromosome 6. Because the proximal CESCR appears abundant in duplicated segments and, therefore, is likely to be gene poor, we consider the putative genes identified in the distal CESCR to represent the majority of candidate genes for involvement in CES.read more
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Mutant Adenosine Deaminase 2 in a Polyarteritis Nodosa Vasculopathy
Paulina Navon Elkan,Sarah B. Pierce,Reeval Segel,Reeval Segel,Tom Walsh,Judith Barash,Shai Padeh,Abraham Zlotogorski,Yackov Berkun,Joseph J. Press,Mukamel M,Isabel Voth,Philip J. Hashkes,Liora Harel,Vered Hoffer,Eduard Ling,Fatoş Yalçınkaya,Ozgur Kasapcopur,Ming K. Lee,Rachel E. Klevit,Paul Renbaum,Ariella Weinberg-Shukron,Ariella Weinberg-Shukron,Elif Funda Sener,Elif Funda Sener,Barbara Schormair,Sharon Zeligson,Dina Marek-Yagel,Tim M. Strom,Mordechai Shohat,Mordechai Shohat,Amihood Singer,Alan Rubinow,Elon Pras,Juliane Winkelmann,Juliane Winkelmann,Mustafa Tekin,Yair Anikster,Mary Claire King,Ephrat Levy-Lahad,Ephrat Levy-Lahad +40 more
TL;DR: Recessive loss-of-function mutations of ADA2, a growth factor that is the major extracellular adenosine deaminase, can cause polyarteritis nodosa vasculopathy with highly varied clinical expression.
Journal ArticleDOI
MEG3 long noncoding RNA regulates the TGF-β pathway genes through formation of RNA–DNA triplex structures
Tanmoy Mondal,Santhilal Subhash,Roshan Vaid,Stefan Enroth,Sireesha Uday,Björn Reinius,Sanhita Mitra,Arif Mohammed,Alva Rani James,Emily Hoberg,Aristidis Moustakas,Ulf Gyllensten,Steven J.M. Jones,Claes M. Gustafsson,Andrew H. Sims,Fredrik Westerlund,Eduardo Gorab,Chandrasekhar Kanduri +17 more
TL;DR: It is shown that MEG3 and EZH2 share common target genes, including the TGF-β pathway genes, and RNA–DNA triplex formation could be a general characteristic of target gene recognition by the chromatin-interacting lncRNAs.
Journal ArticleDOI
A Comparison of Whole-Genome Shotgun-Derived Mouse Chromosome 16 and the Human Genome
Richard J. Mural,Mark Raymond Adams,Eugene W. Myers,Hamilton O. Smith,George L. Gabor Miklos,Ron Wides,Aaron L. Halpern,Peter W. Li,Granger G. Sutton,J. H. Nadeau,Steven L. Salzberg,Robert A. Holt,Chinnappa D. Kodira,Fu Lu,Lin Chen,Zuoming Deng,Carlos Evangelista,Weiniu Gan,Thomas J. Heiman,Jiayin Li,Zhenya Li,Gennady V. Merkulov,Natalia Milshina,Ashwinikumar K Naik,Rong Qi,Bixiong Chris Shue,Aihui Wang,Jian Wang,Xin Wang,Xianghe Yan,Jane Ye,Shibu Yooseph,Qi Zhao,Liansheng Zheng,Shiaoping C. Zhu,Kendra Biddick,Randall Bolanos,Arthur L. Delcher,Ian M. Dew,Daniel Fasulo,Michael Flanigan,Daniel H. Huson,Saul A. Kravitz,Jason R. Miller,Clark M. Mobarry,Knut Reinert,Karin A. Remington,Qing Zhang,Xiangqun H. Zheng,Deborah R. Nusskern,Zhongwu Lai,Yiding Lei,Wenyan Zhong,Alison Yao,Ping Guan,Rui-Ru Ji,Zhiping Gu,Zhen-Yuan Wang,Fei Zhong,Chunlin Xiao,Chia-Chien Chiang,Mark Yandell,Jennifer R. Wortman,Peter Amanatides,Suzanne Hladun,Eric Pratts,Jeffery Johnson,Kristina Dodson,Kerry J. Woodford,Cheryl A. Evans,Barry Gropman,Douglas B. Rusch,Eli Venter,Mei Wang,Thomas J. Smith,Jarrett Houck,Donald E. Tompkins,Charles Haynes,Debbie Jacob,Soo H. Chin,David R. Allen,Carl Dahlke,Robert Sanders,Kelvin Li,Xiangjun Liu,Alexander Levitsky,William H. Majoros,Quan Chen,Ashley Xia,John Lopez,Michael Donnelly,Matthew Newman,A. Glodek,Cheryl L. Kraft,Marc Nodell,Feroze Ali,Huijin An,Danita Baldwin-Pitts,Karen Beeson,Shuang Cai,Mark Carnes,Amy Carver,Parris Caulk,Yen-Hui Chen,Ming-Lai Cheng,My Coyne,Michelle Crowder,Steven Danaher,Lionel Davenport,Raymond Desilets,Susanne Dietz,Lisa Doup,Patrick Dullaghan,Steven Ferriera,Carl Fosler,Harold Gire,Andres Gluecksmann,Jeannine D. Gocayne,Jonathan Gray,Brit J. Hart,Jason Haynes,Jeffery Hoover,Tim Howland,Chinyere Ibegwam,Mena Jalali,David Johns,Leslie Kline,Daniel S. Ma,Steven MacCawley,Anand Magoon,Felecia Mann,David May,Tina C. McIntosh,Somil Mehta,Linda Moy,Mee Moy,Brian Murphy,Sean D. Murphy,Keith Nelson,Zubeda Nuri,Kimberly A. Parker,Alexandre C. Prudhomme,Vinita Puri,Hina Qureshi,John C. Raley,Matthew Reardon,Megan A. Regier,Yu-Hui Rogers,Deanna Romblad,Jakob Schutz,Richard Scott,Cynthia Sitter,Michella Smallwood,Arlan Sprague,Erin Stewart,Renee Strong,Ellen Suh,Karena Sylvester,Reginald Thomas,Ni Ni Tint,Christopher Tsonis,Gary Wang,George Wang,Monica Williams,Sherita Williams,Sandra Windsor,Keriellen Wolfe,Mitchell Wu,Jayshree Zaveri,Kabir Chaturvedi,Andrei Gabrielian,Zhaoxi Ke,Jingtao Sun,Gangadharan Subramanian,J. Craig Venter +174 more
TL;DR: Comparison of the structure and protein-coding potential of Mmu 16 with that of the homologous segments of the human genome identifies regions of conserved synteny with human chromosomes (Hsa) 3, 8, 12, 16, 21, and 22.
Journal ArticleDOI
Developmental genetics of the female reproductive tract in mammals
TL;DR: The emerging genetic pathways that regulate female reproductive-tract formation in mammals and that are implicated in congenital abnormalities of this organ system are reviewed and it is shown that these pathways might be conserved between invertebrates and mammals.
Journal ArticleDOI
Recent duplication, domain accretion and the dynamic mutation of the human genome.
TL;DR: Preliminary analyses indicate that these same regions are targets for rapid evolutionary turnover among the genomes of closely related primates and suggest that duplicative transposition was an important force in the evolution of the human genome.
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